Article
Shank synaptic scaffold proteins: keys to understanding the pathogenesis of autism and other synaptic disorders.
Journal of neurochemistry - 1 Dec 2015
Sala Carlo, Vicidomini Cinzia, Bigi Ilaria, Mossa Adele, Verpelli Chiara
Abstract excerpt
Shank/ProSAP proteins are essential to synaptic formation, development, and function. Mutations in the family of SHANK genes are strongly associated with autism spectrum disorders (ASD) and other neurodevelopmental and neuropsychiatric disorders, such as intellectual disability (ID), and schizophrenia. Thus, the term 'Shankopathies' identifies a number of neuronal diseases caused by alteration of Shank protein...
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